Medium-Chain Acyl-CoA Dehydrogenase Deficiency
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is a genetic disorder that affects the body's ability to break down certain fats for energy. This condition is caused by a mutation in the ACADM gene, which is responsible for producing an enzyme needed to process medium-chain fatty acids. When this enzyme is deficient, the body cannot efficiently convert fats into energy, especially during fasting or illness.
Individuals with MCADD may experience symptoms such as low blood sugar, vomiting, and lethargy, particularly during periods of fasting. Early diagnosis through newborn screening can help manage the condition with dietary changes and supplements, reducing the risk of serious complications.